Quality CareFind out why Mayo Clinic is the right place for your health care. Make an appointment.
Meet the StaffFind a directory of doctors and departments at all Mayo Clinic campuses. Visit now.
Research and Clinical TrialsSee how Mayo Clinic research and clinical trials advance the science of medicine and improve patient care. Explore now.
Visit Our SchoolsEducators at Mayo Clinic train tomorrow’s leaders to deliver compassionate, high-value, safe patient care. Choose a degree.
Professional ServicesExplore Mayo Clinic’s many resources and see jobs available for medical professionals. Get updates.
Give to Mayo ClinicHelp set a new world standard in care for people everywhere. Give now.
Mayo Clinic offers appointments in Arizona, Florida and Minnesota and at Mayo Clinic Health System locations.
Subscribe to Housecall
Our general interest e-newsletter keeps you up to date on a wide variety of health topics.
Porphyria is most often an inherited mutation in one of the genes involved in heme production, although environmental factors can trigger symptoms in some cases.
Heme is a major component of hemoglobin, the protein in red blood cells that carries oxygen from your lungs to all parts of your body. Heme also plays a role in breaking down chemicals so they can be removed from your body. Heme is made mainly in the bone marrow and liver through the production of porphyrin and linkage with iron.
Eight different enzymes add and convert natural, smaller building blocks into porphyrin, which becomes heme with the addition of iron. Deficiency of a specific enzyme that's involved in the body's process for making heme can result in the buildup of porphyrins, causing symptoms. Each type of porphyria is due to the deficiency of a different enzyme.
Most forms of porphyria are inherited. Porphyria can occur if you inherit:
Just because you have inherited a gene or genes that can cause porphyria doesn't mean that you'll have signs and symptoms. You might have what's called latent porphyria, and never have symptoms. This is the case for most carriers of the abnormal genes.
Mayo Clinic is a not-for-profit organization. Make a difference today.
Mayo Clinic is a not-for-profit organization. Proceeds from website advertising help support our mission. Mayo Clinic does not endorse non-Mayo products and services.
Check out these best-sellers and special offers on books and newsletters from Mayo Clinic.
A single copy of these materials may be reprinted for noncommercial personal use only. "Mayo," "Mayo Clinic," "MayoClinic.com," "EmbodyHealth," "Enhance your life," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research.
We comply with the HONcode standard for trustworthy health information: verify here.